humerus trochlea aplasia
http://purl.obolibrary.org/obo/MONDO_0008611
Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. [ Orphanet:3383 ]
Term info
- Orphanet:3383 (OMIM:191000)
- OMIM:191000 (Orphanet:3383/e)
- SCTID:732928005 (MONDO:equivalentTo)
- GARD:0002750 (MONDO:equivalentTo)
- MESH:C566022 (MONDO:equivalentTo)
- UMLS:C1860773 (Orphanet:3383)
gard_rare, ordo_malformation_syndrome
Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.
http://identifiers.org/mesh/C566022, http://linkedlifedata.com/resource/umls/id/C1860773, http://purl.obolibrary.org/obo/Orphanet_3383, https://omim.org/entry/191000, http://identifiers.org/snomedct/732928005
trochlea of the humerus aplasia of, aplasia of trochlea of the humerus, trochlea of the HUMERUS, aplasia OF
MONDO:0008611
https://rarediseases.info.nih.gov/diseases/2750/trochlea-of-the-humerus-aplasia-of